菜单 基因医生

这个基因编码WD重复蛋白家族的一个成员。WD重复是由Gly His和Trp ASP(GH-WD)包围的大约40个氨基酸的最小保守区域,这可能促进异源三聚体或多蛋白复合物的形成。该家族成员参与多种细胞过程,包括细胞周期进程、信号转导、凋亡和基因调控这个基因似乎代表了位于9号染色体上的一个相关的多外显子基因的无内含子的反转录。然而,这个无内含子基因的cds保持完整,它在其他哺乳动物物种中是保守的,它被认为是转录的,因此它被认为编码一种功能蛋白。[由RefSeq提供,2010年5月]
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]

基因名:DCAF12L2
别名:WDR40C
基因ID:340578
Chromosome:
(GRCh37)
X Start: 125297482 End: 125300080 Strand: 
信号通路:  
DCAF12L2 基因突变与药物